A13E (p.Ala13Glu) variant of ID3 (Q02535)
A13E (p.Ala13Glu) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- ExAC rs777214087
- TOPMed rs777214087
- gnomAD rs777214087
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.32
- MetaLR 0.46
- MetaSVM -0.10
- CADD 25.10
- PolyPhen-2 0.63
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available